Cystic fibrosis

Cystic fibrosis (CF) is a common genetic condition. It's caused by changes in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (also called "the cystic fibrosis gene"). The changed gene is passed down in families. To pass on this disease, both parents must be carriers of the changed gene.

CF causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body's organs, especially the lungs and the pancreas. People who have cystic fibrosis can have serious breathing problems and lung disease. They can also have problems with nutrition, digestion, and growth. The disease generally gets worse over time.

As treatments improve, the life expectancy for people with CF has been steadily increasing.

Symptoms of CF are usually caused by the production of thick, sticky mucus throughout the body. The symptoms aren't the same for everyone.

Common symptoms in a baby who has CF include:

• A blocked small intestine at birth. This prevents the baby from passing stool.
• Very salty sweat or skin.
• Diarrhea.
• Not growing or gaining weight the way that other children do.
• Breathing problems, lung infections, a cough that does not go away, and wheezing.

Other symptoms may also develop in childhood, such as:

• Clubbing (rounding and flattening) of the fingers.
• Rectal prolapse. (Part of the rectum sticks out from the anus.)
• Growths (polyps) in the nose or sinuses.

Both newborns and adults can be tested for the changed (mutated) gene that causes CF. These tests include:

• Newborn screening. This checks levels of a digestive enzyme from a blood sample. Some newborns may also have a genetic test.
• Carrier screening. This uses a sample of blood, saliva, or cells from inside the mouth. A standard test looks for the most common changes in the gene. An expanded test looks for more changes. Having the gene change means a parent can pass it along to their child.
• Prenatal testing. This is done during pregnancy. This uses a sample of amniotic fluid from amniocentesis or a tiny piece of placenta removed during chorionic villus sampling.

After a child is diagnosed with CF, a team of health professionals will build a treatment plan. The plan is based on the child's specific health problems. Following a treatment plan will help your child live a longer, healthier life.

A personal treatment plan will quickly become part of your child's daily routine. It will include airway clearance techniques (ACT), medicines, a fitness plan, and nutritional therapies.

Regular visits with the team involved in your child's care are important. Lab tests can help the doctor know how serious the disease is and how it is affecting your child's body.

Some treatments are still being tested and developed. Talk to your doctor about clinical trials and new treatments.

The best treatment available is often found at cystic fibrosis care centers. These centers address medical, nutritional, and emotional needs. Contact the Cystic Fibrosis Foundation at www.cff.org to find one.

Home treatment is very important. It can help a person with CF feel better and live longer. Here are some things you can do at home, or help your child do, to help prevent more serious health problems like lung infections.

• Don't smoke. And avoid secondhand smoke.
• Use airway clearance techniques, such as postural drainage and chest percussion.
• Eat nutritious, high-calorie foods.
• Exercise.
• Drink plenty of fluids.
• Add salt to foods, especially during hot weather.
• Get all recommended vaccines, and practice good hygiene. Also keep clean any breathing equipment you use for treatment.

Even though it can be hard to follow a treatment plan every day, there are many benefits of home treatments. Skipping a treatment may not make a person feel worse right away. But it raises the chances of having more serious problems later.